Journal of Neurology

, Volume 254, Issue 11, pp 1498–1503

Evidence of cardiovascular autonomic impairment in mitochondrial disorders

  • R. Di Leo
  • O. Musumeci
  • C. de Gregorio
  • A. Recupero
  • P. Grimaldi
  • C. Messina
  • S. Coglitore
  • G. Vita
  • A. Toscano
ORIGINAL COMMUNICATION

DOI: 10.1007/s00415-007-0536-5

Cite this article as:
Di Leo, R., Musumeci, O., de Gregorio, C. et al. J Neurol (2007) 254: 1498. doi:10.1007/s00415-007-0536-5

Abstract

Objective

To investigate autonomic nervous system (ANS) function in mitochondrial disorders (MD).

Background

MD are characterized by a wide range of clinical features, including heart abnormalities and peripheral and central nervous systems involvement. Rarely autonomic symptoms have been reported.

Methods

22 patients with MD underwent a battery of cardiovascular reflex tests including five tests of parasympathetic function and four tests of sympathetic function. Power spectral analyses (PSA) of heart rate variability in the supine and upright positions were also evaluated. Plasma levels of adrenaline, noradrenaline and dopamine were determined in the standing and lying positions.

Results

Only 4/22 patients referred symptoms related to ANS dysfunction. 46% of patients had a definite autonomic damage (i. e. an autonomic score ≥ 4). 36% showed moderate alterations with an autonomic score in the range 2–3 and 18 % had a normal autonomic function. MD patients had a significantly (p <0.03) lower increase of adrenaline level after standing.

Conclusions

Our data indicate an autonomic dysfunction in more than 80% of MD patients, even in the absence of a clinically manifested autonomic involvement. Cardiovascular autonomic investigation might be systematically employed in the characterization of MD.

Key words

mitochondrial encephalomyopathies autonomic nervous system cardiovascular reflex tests plasma catecholamines power spectral analysis 

Copyright information

© Steinkopff-Verlag 2007

Authors and Affiliations

  • R. Di Leo
    • 1
  • O. Musumeci
    • 1
  • C. de Gregorio
    • 2
  • A. Recupero
    • 2
  • P. Grimaldi
    • 2
  • C. Messina
    • 1
  • S. Coglitore
    • 2
  • G. Vita
    • 1
  • A. Toscano
    • 1
  1. 1.Dept. of Neurosciences Psychiatry and AnaesthesiologyUniversity of MessinaMessinaItaly
  2. 2.Dept. of Clinical and Experimental MedicineUniversity of MessinaMessinaItaly